Schneiderman Prelims Vol-I. qxd

SYNDROMES
Ablepharon with follicular ichthyosis and hairy pinnae
Clin Genet 2:111–114, 1971
Adolescent-onset ichythyosiform-like erythroderma with
lichenoid tissue reaction 
BJD 144:1063–1066, 2001
Anhidrotic ectodermal dysplasia
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate
(AEC syndrome) – collodion baby
Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis
syndrome (ARCI) 
Dur J Pediatr 156:78, 1997
Atypical ichthyosis vulgaris with hypogonadism
Buschke–Ollendorf syndrome 
Sybert’s Genetic Skin Disorders
Cardio-facio-cutaneous syndrome (Noonan-like short stature
syndrome) – xerosis/ichthyosis, eczematous dermatitis,
growth failure, hyperkeratotic papules, ulerythema ophryogenes,
seborrheic dermatitis, CALMs, nevi, keratosis pilaris, autosomal
dominant, patchy or widespread ichthyosiform eruption, sparse
curly short scalp hair and eyebrows and lashes, hemangiomas,
acanthosis nigricans, congenital lymphedema of the hands,
redundant skin of the hands, short stature, abnormal facies,
cardiac defects 
JAAD 46:161–183, 2002; Ped Derm
17:231–234, 2000; JAAD 28:815–819, 1993; AD 129:46–47,
1993; port wine stain Clin Genet 42:206–209, 1992;
JAAD 22:920–922, 1990
Chondrodysplasia punctata, X-linked recessive – short stature
with ichthyosis 
Ped Derm 18:442–444, 2001
Congenital erosive and vesicular dermatosis with reticulate
scarring – collodion-like membrane 
JAAD 32:873–877, 1995,
Ped Derm 15:214–218, 1998
Congenital ichthyosis, alopecia, eclabion, ectropion, mental
retardation – autosomal recessive 
Clin Genet 31:102–108, 1987
Congenital ichthyosis, follicular atrophoderma, hypotrichosis,
and hypohidrosis 
Am J Med Geneet 13:186–189, 1998
Congenital ichthyosis with linear keratotic flexural papules
and mutilating sclerosing palmoplantar keratoderma
AD 125:103–106, 1989
CHILD syndrome – congenital hemidysplasia, ichthyosis, limb
defects, unilateral ichthyosiform erythroderma; ipsilateral
hypoplasia of brain and bones 
Curr Prob Derm 14:71–116, 2002;
Ped Derm 15:360–366, 1998; Dermatology 191:210–216, 1995
CHIME syndrome – colobomata, heart defects, ichthyosiform
dermatosis of the flexures, mental retardation, and ear
defects – congenital ichthyosis with islands of sparing; migratory
plaques 
Curr Prob Derm 14:71–116, 2002; JAAD 46:S156–158,
2002 Ped Derm 18:252–254, 2001; J Med Genet 32:465–469,
1995
Chondrodysplasia punctata, rhizomelic type, ichthyosis
Congenital ichythyosis, hypogonadism, small stature, facial
dysmorphism, scoliosis, and myogenic dystrophy 
Ann Genet
42:45–50, 1999
Congenital ichthyosis, retinitis pigmentosa, hypergonadotropic
hypogonadism, small stature, mental retardation, cranial
dysmorphism, abnormal electroencephalogram 
Ophthalmic
Genet 19:69–79, 1998
Congenital ichthyosis and keratoderma (Vohwinkel’s syndrome) 
Congenital reticular ichthyosiform erythroderma (ichthyosis
variegata) 
BJD 139:893–896, 1998
Conradi–Hünermann syndrome (Happle’s syndrome) (X-linked
dominant chondrodysplasia punctata) (chondrodysplasia
punctata, ichthyosis, cataract syndrome); autosomal recessive,
collodion baby or ichthyosiform erythroderma at birth; or onset
in infancy, Blaschko pattern of erythroderma and scaling;
plantar hyperkeratosis; resolves in time to reveal whorl-like
ichthyosiform hyperkeratosis heals with atrophy, swirls of fine
scale, linear hyperpigmentation, follicular atrophoderma of arms
and legs, cicatricial alopecia; skeletal defects with short stature
severe autosomal rhizomelic type; X-linked recessive variant;
bilateral cataracts, high arched palate, shortening of humerus
and femur; chondrodysplasia punctata; peroxisomal enzyme
deficiency;
JAAD 21:248–256, 1989; whorled thick or spiky
hyperkeratosis in X-linked dominant Conradi–Hünermann
syndrome 
JAAD 21:248–256, 1989; linear hyperkeratotic bands
with diffuse erythema and scale, follicular atrophoderma,
hypochromic areas, scalp alopecia, ichthyosiform erythroderma
Curr Prob Derm 14:71–116, 2002; AD 127:539–542, 1991,
Ped Derm 15:299–303, 1998; Rook p.1520, 1998, Sixth Edition;